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Impaired ristocetin-induced platelet aggregation

MedGen UID:
868749
Concept ID:
C4023154
Pathologic Function
HPO: HP:0011871

Definition

Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Impaired ristocetin-induced platelet aggregation

Conditions with this feature

Bernard Soulier syndrome
MedGen UID:
2212
Concept ID:
C0005129
Disease or Syndrome
Bernard-Soulier syndrome is an autosomal recessive bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor (VWF; 613160) receptor complex, glycoprotein Ib (GP Ib). GP Ib is composed of 4 subunits encoded by 4 separate genes: GP1BA, GP1BB, GP9, and GP5 (173511). Genetic Heterogeneity of Platelet-Type Bleeding Disorders Inherited platelet disorders are a heterogeneous group of bleeding disorders affecting platelet number, function, or both. Functional defects can involve platelet receptors, signaling pathways, cytoskeletal proteins, granule contents, activation, or aggregation (review by Cox et al., 2011 and Nurden and Nurden, 2011). Platelet-type bleeding disorders include Bernard-Soulier syndrome (BDPLT1); Glanzmann thrombasthenia (BDPLT2; 273800), caused by mutation in the ITGA2B (607759) or ITGB3 (173470) gene; pseudo-von Willebrand disease (BDPLT3; 177820), caused by mutation in the GP1BA gene (606672); gray platelet syndrome (BDPLT4; 139090), caused by mutation in the NBEAL2 gene (614169); Quebec platelet disorder (BDPLT5; 601709), caused by tandem duplication of the PLAU gene (191840); May-Hegglin anomaly (BDPLT6; 155100), caused by mutation in the MYH9 gene (160775); Scott syndrome (BDPLT7; 262890), caused by mutation in the TMEM16F gene (608663); BDPLT8 (609821), caused by mutation in the P2RY12 gene (600515); BDPLT9 (614200), associated with deficiency of the glycoprotein Ia/IIa receptor (see ITGA2; 192974); glycoprotein IV deficiency (BDPLT10; 608404), caused by mutation in the CD36 gene (173510); BDPLT11 (614201), caused by mutation in the GP6 gene (605546); BDPLT12 (605735), associated with a deficiency of platelet COX1 (176805); susceptibility to BDPLT13 (614009), caused by mutation in the TBXA2R gene (188070); BDPLT14 (614158), associated with deficiency of thromboxane synthetase (TBXAS1; 274180); BDPLT15 (615193), caused by mutation in the ACTN1 gene (102575); BDPLT16 (187800), caused by mutation in the ITGA2B (607759) or ITGB3 (173470) gene; BDPLT17 (187900), caused by mutation in the GFI1B gene (604383); BDPLT18 (615888), caused by mutation in the RASGRP2 gene (605577); BDPLT19 (616176), caused by mutation in the PRKACG gene (176893); BDPLT20 (616913), caused by mutation in the SLFN14 gene (614958); BDPLT21 (617443), caused by mutation in the FLI1 gene (193067); BDPLT22 (618462), caused by mutation in the EPHB2 gene (600997); BDPLT23 (619267), caused by mutation in the ITGB3 gene (173470); BDPLT24 (619271), caused by mutation in the ITGB3 gene (173470); and BDPLT25 (620486), caused by mutation in the TPM4 gene (600317). See reviews by Rao (2003), Cox et al. (2011), and Nurden and Nurden (2011). For a discussion of the genetic heterogeneity of hereditary thrombocytopenia, see THC1 (313900).
Glanzmann thrombasthenia
MedGen UID:
52736
Concept ID:
C0040015
Disease or Syndrome
Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by bleeding underneath the skin (petechiae) or swelling caused by bleeding within tissues (hematoma). Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). Women with this condition can have prolonged and sometimes abnormally heavy menstrual bleeding. Affected women also have an increased risk of excessive blood loss during pregnancy and childbirth.\n\nAbout a quarter of individuals with Glanzmann thrombasthenia have bleeding in the gastrointestinal tract, which often occurs later in life. Rarely, affected individuals have bleeding inside the skull (intracranial hemorrhage) or joints (hemarthrosis).\n\nThe severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. Spontaneous bleeding tends to become less frequent with age.
Bernard-Soulier syndrome, type A2, autosomal dominant
MedGen UID:
478706
Concept ID:
C3277076
Disease or Syndrome
Autosomal dominant Bernard-Soulier syndrome type A2 (BSSA2) is characterized by chronic macrothrombocytopenia with mild or no clinical symptoms, normal platelet function, and normal megakaryocyte count. When present, clinical findings include excessive ecchymoses, frequent epistaxis, gingival bleeding, prolonged menstrual periods, or prolonged bleeding after tooth extraction (Savoia et al., 2001). Genetic Heterogeneity of Bernard-Soulier Syndrome Homozygous or compound heterozygous mutations in the GP1BA gene cause classic autosomal recessive Bernard-Soulier syndrome (BSSA1; 231200).
Platelet-type bleeding disorder 11
MedGen UID:
481750
Concept ID:
C3280120
Disease or Syndrome
Platelet-type bleeding disorder-11 is an autosomal recessive mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen (summary by Dumont et al., 2009).
Bleeding disorder, platelet-type, 22
MedGen UID:
1673822
Concept ID:
C5193111
Disease or Syndrome
Platelet-type bleeding disorder-22 (BDPLT22) is an autosomal recessive bleeding disorder resulting from impaired platelet aggregation due to intracellular signaling defects. Patients present in the first decade with spontaneous subcutaneous bleeding and excessive bleeding after minor injuries. Platelet counts are usually normal, although platelets show abnormal morphology (summary by Berrou et al., 2018).
Thrombocytopenia 7
MedGen UID:
1768257
Concept ID:
C5436874
Disease or Syndrome
Thrombocytopenia-7 (THC7) is an autosomal dominant disorder characterized by reduced peripheral platelet count. The expression and severity of the disorder is highly variable: some patients have no bleeding symptoms, whereas other have recurrent petechiae, epistaxis, or more severe bleeding episodes. A common finding is decreased alpha-granules in the platelets. There are variable findings on light and electron microscopic analysis: some patients have normal platelet morphology, whereas others show abnormal platelet morphology with cytoskeletal defects. Flow cytometric studies may show reduced expression of platelet membrane glycoproteins and activation markers (summary by Lentaigne et al., 2019 and Leinoe et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900.
Glanzmann thrombasthenia 2
MedGen UID:
1782592
Concept ID:
C5543273
Disease or Syndrome
Glanzmann thrombasthenia-2 (GT2) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb (607759)/IIIa platelet surface fibrinogen receptor complex resulting from mutations in the GPIIIa gene (Rosenberg et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of Glanzmann thrombasthenia, see 273800.
Bleeding disorder, platelet-type, 24
MedGen UID:
1785711
Concept ID:
C5543280
Disease or Syndrome
Platelet-type bleeding disorder-24 (BDPLT24) is an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities (summary by Kunishima et al., 2011 and Nurden et al., 2011). For a discussion of genetic heterogeneity of Glanzmann thrombasthenia-like with macrothrombocytopenia, see 187800.

Professional guidelines

PubMed

Savoia A, Pastore A, De Rocco D, Civaschi E, Di Stazio M, Bottega R, Melazzini F, Bozzi V, Pecci A, Magrin S, Balduini CL, Noris P
Haematologica 2011 Mar;96(3):417-23. Epub 2010 Dec 20 doi: 10.3324/haematol.2010.032631. PMID: 21173099Free PMC Article

Recent clinical studies

Etiology

Dmitrieva EA, Nikitin EA, Ignatova AA, Vorobyev VI, Poletaev AV, Seregina EA, Voronin KA, Polokhov DM, Maschan AA, Novichkova GA, Panteleev MA, Ptushkin VV
J Thromb Haemost 2020 Oct;18(10):2672-2684. doi: 10.1111/jth.14943. PMID: 32511880
Ruiz-Llobet A, Isola I, Gassiot S, Català A, Díaz-Ricart M, Martínez-Monseny AF, Serrano M, Berrueco R
Thromb Haemost 2020 Mar;120(3):457-465. Epub 2020 Mar 5 doi: 10.1055/s-0040-1701239. PMID: 32135567
Schmidt DE, Bruzelius M, Majeed A, Odeberg J, Holmström M, Ågren A
Thromb Haemost 2017 Jul 26;117(8):1528-1533. Epub 2017 Jul 6 doi: 10.1160/TH17-02-0129. PMID: 28692107
Gutman H, Schachter J, Stopel E, Gutman R, Lahav J
Cancer 2002 Feb 1;94(3):780-5. doi: 10.1002/cncr.10261. PMID: 11857313
Weiss HJ
Blood 1975 Mar;45(3):403-12. PMID: 1078779

Diagnosis

Ruiz-Llobet A, Isola I, Gassiot S, Català A, Díaz-Ricart M, Martínez-Monseny AF, Serrano M, Berrueco R
Thromb Haemost 2020 Mar;120(3):457-465. Epub 2020 Mar 5 doi: 10.1055/s-0040-1701239. PMID: 32135567
Nummi V, Lassila R, Joutsi-Korhonen L, Armstrong E, Szanto T
Int J Lab Hematol 2018 Jun;40(3):304-311. Epub 2018 Feb 10 doi: 10.1111/ijlh.12785. PMID: 29427305
Frontroth JP, Favaloro EJ
Methods Mol Biol 2017;1646:473-494. doi: 10.1007/978-1-4939-7196-1_35. PMID: 28804849
Schmidt DE, Bruzelius M, Majeed A, Odeberg J, Holmström M, Ågren A
Thromb Haemost 2017 Jul 26;117(8):1528-1533. Epub 2017 Jul 6 doi: 10.1160/TH17-02-0129. PMID: 28692107
Akay OM, Mutlu F, Gülbaş Z
Turk J Haematol 2016 Jun 5;33(2):127-30. Epub 2015 Aug 6 doi: 10.4274/tjh.2014.0213. PMID: 26377244Free PMC Article

Therapy

Kazianka L, Drucker C, Skrabs C, Thomas W, Melchardt T, Struve S, Bergmann M, Staber PB, Porpaczy E, Einberger C, Heinz M, Hauswirth A, Raderer M, Pabinger I, Thalhammer R, Egle A, Wendtner CM, Follows G, Hoermann G, Quehenberger P, Jilma B, Jaeger U
Leukemia 2017 May;31(5):1117-1122. Epub 2016 Nov 2 doi: 10.1038/leu.2016.316. PMID: 27909342Free PMC Article
Akay OM, Mutlu F, Gülbaş Z
Turk J Haematol 2016 Jun 5;33(2):127-30. Epub 2015 Aug 6 doi: 10.4274/tjh.2014.0213. PMID: 26377244Free PMC Article
Michiels JJ, Gadisseur A, Vangenegten I, Schroyens W, Berneman Z
Acta Haematol 2009;121(2-3):119-27. Epub 2009 Jun 8 doi: 10.1159/000214852. PMID: 19506358
Steinlechner B, Dworschak M, Birkenberg B, Duris M, Zeidler P, Fischer H, Milosevic L, Wieselthaler G, Wolner E, Quehenberger P, Jilma B
Ann Thorac Surg 2009 Jan;87(1):131-7. doi: 10.1016/j.athoracsur.2008.10.027. PMID: 19101285
Gutman H, Schachter J, Stopel E, Gutman R, Lahav J
Cancer 2002 Feb 1;94(3):780-5. doi: 10.1002/cncr.10261. PMID: 11857313

Prognosis

Dmitrieva EA, Nikitin EA, Ignatova AA, Vorobyev VI, Poletaev AV, Seregina EA, Voronin KA, Polokhov DM, Maschan AA, Novichkova GA, Panteleev MA, Ptushkin VV
J Thromb Haemost 2020 Oct;18(10):2672-2684. doi: 10.1111/jth.14943. PMID: 32511880
Schmidt DE, Bruzelius M, Majeed A, Odeberg J, Holmström M, Ågren A
Thromb Haemost 2017 Jul 26;117(8):1528-1533. Epub 2017 Jul 6 doi: 10.1160/TH17-02-0129. PMID: 28692107
Fiore M, James C, Mouton C, Calderon J, Barandon L, Ouattara A, Picard F
J Thorac Cardiovasc Surg 2014 Dec;148(6):3119-25.e1. Epub 2014 Aug 6 doi: 10.1016/j.jtcvs.2014.07.091. PMID: 25212058
Steinlechner B, Dworschak M, Birkenberg B, Duris M, Zeidler P, Fischer H, Milosevic L, Wieselthaler G, Wolner E, Quehenberger P, Jilma B
Ann Thorac Surg 2009 Jan;87(1):131-7. doi: 10.1016/j.athoracsur.2008.10.027. PMID: 19101285

Clinical prediction guides

Dmitrieva EA, Nikitin EA, Ignatova AA, Vorobyev VI, Poletaev AV, Seregina EA, Voronin KA, Polokhov DM, Maschan AA, Novichkova GA, Panteleev MA, Ptushkin VV
J Thromb Haemost 2020 Oct;18(10):2672-2684. doi: 10.1111/jth.14943. PMID: 32511880
Ruiz-Llobet A, Isola I, Gassiot S, Català A, Díaz-Ricart M, Martínez-Monseny AF, Serrano M, Berrueco R
Thromb Haemost 2020 Mar;120(3):457-465. Epub 2020 Mar 5 doi: 10.1055/s-0040-1701239. PMID: 32135567
Schmidt DE, Bruzelius M, Majeed A, Odeberg J, Holmström M, Ågren A
Thromb Haemost 2017 Jul 26;117(8):1528-1533. Epub 2017 Jul 6 doi: 10.1160/TH17-02-0129. PMID: 28692107
Kazianka L, Drucker C, Skrabs C, Thomas W, Melchardt T, Struve S, Bergmann M, Staber PB, Porpaczy E, Einberger C, Heinz M, Hauswirth A, Raderer M, Pabinger I, Thalhammer R, Egle A, Wendtner CM, Follows G, Hoermann G, Quehenberger P, Jilma B, Jaeger U
Leukemia 2017 May;31(5):1117-1122. Epub 2016 Nov 2 doi: 10.1038/leu.2016.316. PMID: 27909342Free PMC Article
Bensoussan D, Levy-Toledano S, Passa P, Caen J, Canivet J
Diabete Metab 1977 Dec;3(4):223-7. PMID: 304425

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